I48T (p.Ile48Thr) variant of BTD (Biotinidase)
I48T (p.Ile48Thr) in BTD (Biotinidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
I48T (p.Ile48Thr) variant details
- p.Ile48Thr
- rs1214245001
- gnomAD 3-15631474-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.15
- CADD 7.30
- Most common in the East Asian population (allele frequency 5.6e-05)
- Structural context available
- Literature evidence available